Canonical Allele Identifier: PA319265
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207621
ClinVar RCV Id: RCV000189826 RCV001852519 RCV002321766 RCV003895230
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu1045Phe
CA319263
NM_000368.5:c.3133C>T